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Vol 13, No 4 (2022)

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Lysosomal storage diseases. Sphingolipidoses — sphingomyelin lipidosis, or Niemann–Pick disease, Wolman disease

Gorbunova V.N., Buchinskaia N.V.


The epidemiology, clinical biochemical and molecular genetic characteristics of glycosphingolipidoses with impaired metabolism and excessive accumulation in parenchymal organs, bone and brain not only of sphingolipids, but also free cholesterol are presented. First of all, it is sphingomyelin lipidosis, or Niemann–Pick disease, a clinically polymorphic and genetically heterogeneous group of rare monogenic diseases. Types A and B, which differ in onset and severity, are allelic diseases and are caused by the presence of recessive mutations in the lysosomal acid sphingomyelinase (SMPD1) gene. Type A is a classic acute neuronopathy, which starts in 85% of cases before 6 months, death occurs before the age of 3 years. The cause of the disease is mutations with premature termination of translation or severe impairment of the catalytic activity of the enzyme. In type B, missense mutations are more common. This is a chronic visceral form, in which neurological symptoms are usually absent, and patients survive into adolescence. Juvenile and adult forms of chronic neuronopathy type C are genetically heterogeneous. In 95% of cases they are caused by mutations in the NPC1 gene (type C1) and in 5% — in the NPC2 gene (type C2). The products of these genes are transmembrane proteins responsible for the transport of cholesterol and other lipids. Cholesterol ester storage disease, or Wolman disease, is caused by hereditary deficiency of lysosomal acid lipase A. The possibility of early diagnosis of these diseases based on neonatal screening is discussed in order to increase the effectiveness of their prevention and treatment. The importance of experimental models for studying the molecular basis of the pathogenesis of these severe hereditary diseases and developing various therapeutic approaches, such as bone marrow transplantation, enzyme replacement therapy, and substrate-reducing therapy, is emphasized. A clinical example of Niemann–Pick disease type C is presented.

Pediatrician (St. Petersburg). 2022;13(4):5-27
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Original studies

Risks of microbial colonization in newborn born to mothers with chorioamnionitis

Shevareva E.A., Savicheva A.M., Fedorova L.A., Shalepo K.V., Grinenko G.V., Nevmerzhitskaia O.V.


BACKGROUND: Chorioamnionitis, or intra-amniotic infection, is an infection of the membranes and amniotic cavity caused by polymicrobial associations, including Streptococcus agalactiae (SGB), predominantly localised to the lower genital tract of women. The colonization of a infant with GBS occurs as a result of ascending infection from the mother, in the intranatal period during passage through the natural birth canal of the mother. Colonization of the skin and mucous membranes of the infant in the vast majority of cases proceeds without the clinical implementation of the infectious process, only 2-5% of infected newborns develop an infection associated with GBS.

AIM: The aim of the study is to investigate the vaginal and uterine microflora in women with chorioamnionitis and to determine the degree of neonatal colonization.

MATERIALS AND METHODS: A microbiological examination was undertaken in 113 mother–child pairs. Main group (group I): pregnant women with full-term pregnancy (≥37 weeks’ gestation) who were diagnosed with clinical chorioamnionitis and prescribed antibacterial agents, and their newborns (n = 77). Comparison group (group II): 36 pregnant women without clinical chorioamnionitis with a gestational age of ≥37 weeks’ gestation and their newborns with a physiological course of the early neonatal period. Clinical specimens: secretions from the posterior vaginal fornix and the inner surface of the uterine wall at surgical delivery in women in labour with clinical signs of chorioamnionitis (group I) and without clinical manifestations of chorioamnionitis (group II). Material was obtained at the height of body temperature in group I and during the 1st period of labour in group II. The clinical materials were umbilical cord blood, skin surface of the occipital fold, discharge from the cavity, and discharge from the tracheobronchial tree (in case of respiratory therapy with ventilator therapy).

RESULTS: At bacteriological examination in women of Group I the frequency of microorganism isolation from the vaginal discharge was: Enterococcus faecalis — 31.8%, S. agalactiae (SGB) — 30.3% and Escherichia coli — 24.2%. The proportion of SGB at 106 CFU/ml was 70%. The proportion of E. coli at 106 CFU/ml was 75% and that of Candida albicans 72%. Among microorganisms isolated from the uterine cavity, the proportion of SGB at 106 CFU/ml was 60%, E. coli 100%. Bacteriological testing of the examined children showed that S. agalactiae (SGB), E. faecalis and E. coli were isolated from almost all neonatal loci studied. Comparative studies have shown that the colonisation of newborn infants was most frequently caused by S. agalactiae (SGB), E. faecalis and E. coli. The frequency of maternal transmission of these organisms to the foetus and the newborn is 100% for S. agalactiae (SGB) and 18–50% for E. faecalis and E. coli. In all examined children of the main group and with the presence of S. agalactiae (SGB) in the uterine cavity of their mothers (n = 5), these microorganisms were isolated from different loci (in all cases from the skin surface of the auricular fold and from oral discharge, and in three cases from umbilical cord blood), but clinical manifestations of the infection process did not develop in any child.

CONCLUSIONS: Despite antibiotic therapy for chorioamnionitis in women, the incidence of micro-organism isolation from both the vagina and the uterine cavity remains high. In most cases, newborns from mothers with chorioamnionitis colonised with micro-organisms, including S. agalactiae (SGB), do not develop a clinical picture of an infective process. Further research is needed to develop preventive measures in terms of perinatal and neonatal infections.

Pediatrician (St. Petersburg). 2022;13(4):29-40
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Comparative study of microbial colonization of catheters for prolonged regional anesthesia when using different fixation methods

Yakovleva E.S., Diordiev A.V., Adkina E.A., Shagurin R.V., Yakovlev S.V., Kulagina Y.M., Golovinskaya N.A.


BACKGROUND: Infectious complications related to prolonged epidural and peripheral regional anesthesia are quite rare. However, this does not exclude the necessity of strict adherence to measures aimed at preventing microbial colonization of catheters for regional anesthesia. Microbial colonization of the catheter is not always accompanied by the development of infectious complications but increases the likelihood of their occurrence.

AIM: To determine the frequency of colonization, the qualitative and quantitative composition of the microflora depending on the various methods of fixing of the catheter and the duration of its use.

MATERIALS AND METHODS: 76 patients from 2 to 18 years old with prolonged epidural or peripheral anesthesia were included in an comparative, prospective, randomized, single-center study. Patients were divided into the groups according to the method of catheter fixation - adhesive sticker (AS), adhesive sticker and antimicrobial coating Desitol B (AS+D) and tunneling (T). Determination of microbial contamination of catheters was carried out using classical bacteriological studies.

RESULTS: None of the 76 patients had signs of a local or systemic infection. The difference in the frequency of colonization between the AS and T groups was statistically significant: χ2 (1, n = 54) = 5.5381 (p = 0.018), between the AS and AS+D groups it was not significant. The relative risk of colonization of the skin of the catheter with adhesive fixation was 2.14 times higher than with catheter tunneling: RR = 2.14, p = 0.05 (95% CI 1.0–4.49). In the AS+D group, colonization of both the skin and the inner part of the catheter was observed significantly earlier than in the T group: skin part: U = 5.5; Ucr = 8 (p = 0.02); inner part: U = 5.5; Ucr = 6 (p = 0.04). The growth of Staphylococcus epidermidis (48.3%) and Staphylococcus aureus (20.7%) was fixed mainly when positive results of microbiological culture takes place.

CONCLUSIONS: Tunneling is the preferred method of fixation of the catheter when the postoperative pain relief period is more than 3 days.

Pediatrician (St. Petersburg). 2022;13(4):41-52
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Clinical and functional features of chronic pyelonephritis in children with connective tissue dysplasia

Ivanova I.I., Koval N.Y.


BACKGROUND: There is information in the literature about the effect of connective tissue dysplasia (СTD) on the course of many somatic diseases. The role of СTD in the development of chronic pyelonephritis (СhPN) is presented differently to different authors, which is why it became necessary to conduct this study.

AIM: The aim of the work is to evaluate the effect of СTD on the course and manifestations of chronic secondary pyelonephritis in children.

MATERIALS AND METHODS: 142 children from 6 to 17 years old with СhPN were examined. They were divided into 2 groups: the 1st group included 108 children with manifestations of СTD, including 41 people with СTD of the 3rd degree and 67 people with СTD of the 2nd degree; group 2 — 34 patients without СTD. The groups were comparable in gender and age. The examination was carried out according to the standards for patients with ChPN. Signs of СTD were evaluated by the method of T.I. Kadurina.

RESULTS: Obstructive and mixed variants of СhPN are typical for children with СTD. In most patients, the disease manifested at 1–2 years of life; at school age the first signs of the disease occurred mainly in children without СTD with dysmetabolic disorders. Relapses of СhPN in children with СTD occurred 1.5 times more often during the year and 2,1 times more often during 5 years of follow-up. Patients with СTD are characterized by a wider range of pathogens, anemia, a high incidence of structural abnormalities and urodynamic disorders, a tendency to form foci of nephrosclerosis. The need for surgical treatment in the presence of СTD increases in patients with СhPN by 4.6 times, including in repeated and radical operations. In children with grade 3 СTD, all these signs are more represented.

CONCLUSIONS: СTD affects the course and manifestations of СhPN in children, creating an unfavorable background. It seems promising to study the role of СTD in the occurrence of anemia in children with СhPN.

Pediatrician (St. Petersburg). 2022;13(4):53-63
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Urinary biomarkers in children with kidney diseases taking into account obesity

Nastausheva T.L., Chan A.V., Kulakova E.N., Volosovets G.G., Chichuga E.M., Chubarov T.V., Gurovich O.V., Grebennikova I.V.


BACKGROUND: Overweight and obesity in children are one of the most serious problems of the modern world. There are mane publications devoted to kidney injury in patients with obesity. This injury in developed imperceptibly, without clinical symptoms. Probably the diagnostics of kidney injury in children with obesity may be improved by studying new urinary markers: KIM-1, NGAL, IL-18, β2-mg.

AIM: Aim of our study was the comparative analysis of urinary markers of tubular kidney injury (KIM-1, NGAL, IL-18, β2-mg) in children with obesity and kidney diseases.

MATERIALS AND METHODS: We have been studied 78 children aged 7–15 years: 40 children with different kidney diseases and 38 patients with obesity and kidney diseases. The results of the study were presented as markers concentration in urine and as relation to creatinine (normalized indicators).

RESULTS: In children with obesity and kidney diseases the level of KIM-1 was more high in comparison with the children without obesity. The concentration of other markers (NGAL, IL-18, β2-mg) did not differ in children of two groups. The same results were received when analyzing normalized indicators. It was appeared significant correlation between body mass of patients and NGAL of urine in both groups.

CONCLUSIONS: Investigation of urinary KIM-1 have significance for diagnostics of tubular kidney injury in children with obesity on the background of kidney diseases. Established significant correlation NGAL with body mass can testify about it is diagnostic significance for obesity regardless of kidney diseases.

Pediatrician (St. Petersburg). 2022;13(4):65-74
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Chronic obstructive lung diseases as a risk factor for severe COVID-19 (review)

Kulikov V.D., Sukhovskaya O.A., Smirnova M.A., Kuzubova N.A., Titova O.N.


The review presents meta-analyses and original studies data of severe outcomes of COVID-19 infection in patients with chronic obstructive pulmonary disease.

The main risk factors for the severe course of COVID-19 in many studies have been identified as follows: age over 65 years, chronic lung diseases, systemic arterial hypertension, cardiovascular diseases, diabetes mellitus, immunosuppression, chronic kidney and liver diseases. It was shown that patients with concomitant respiratory diseases were 4.2 times more likely to have a severe course of COVID-19 (OR 4.21; 95% CI 2.9–6.0), especially in patients with chronic obstructive pulmonary disease (OR 5.8, 95% CI 3.9–8.5). Patients with bronchial asthma also more often received mechanical ventilation (OR 1.58; 95% CI 1.02–2.44; p = 0.04), treatment in intensive care units (OR 1.58; 95% CI 1.09–2.29; p = 0.02), had longer hospital stays (OR 1.30; 95% CI 1.09–1.55; р < 0.003) and higher mortality (OR 1.53; 95 % CI 1.01–2.33; p = 0.04) compared with COVID-19 patients without asthma or other chronic obstructive pulmonary diseases. Another factor contributing to severe outcomes of COVID-19 is tobacco use, which increases the risk of severe disease, hospitalization and poor outcomes.

Patients with chronic obstructive pulmonary diseases, especially smokers, were more likely to have a severe COVID-19 and adverse outcomes of this disease, which must be taken into account when prescribing treatment for coronavirus infection.

Pediatrician (St. Petersburg). 2022;13(4):75-82
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Clinical observation

Pleuropulmonary blastoma: case report in a child 8 years old

Zaripova Y.R., Muss E.A., Arsentev V.G.


Pleuropulmonary blastoma is a very rare primary fetal tumor of the lung and pleura in young children and is associated with a mutation in the DICER1 gene. Based on the histological picture, three types of this tumor are distinguished: cystic (type I), solid cystic (II), solid (type III). Treatment is surgical followed by polychemotherapy. The prognosis is unfavorable.

The authors bring to the attention of colleagues a description of a clinical case of pleuropulmonary blastoma in an 8-year-old child, diagnosed against the background of an acute respiratory viral infection. He fell ill acutely with a rise in temperature and an unproductive cough. The condition was regarded as a course of an acute respiratory viral infection, symptomatic therapy was carried out. After 8 days from the onset of respiratory viral infection, there is a sharp deterioration in the condition in the form of shortness of breath, refusal to eat and drink, and weakness. The child is hospitalized in a Central District Hospital, differential diagnosis with pneumonia is carried out. According to the examination (plain radiograph and CT scan of the chest), a large volumetric formation with even contours is visualized in the right lung. The patient is transferred to a specialized hospital in St. Petersburg. After an MRI of the chest organs with contrast, taking a biopsy material and performing a histological examination, the patient was diagnosed with a tumor of the right lung — pleuropulmonary blastoma type II.

This clinical case of a rare malignant tumor in an 8-year-old child with congenital heart disease and cerebral palsy may demonstrate a severe variant of systemic connective tissue dysplasia and gene mutation.

Pediatrician (St. Petersburg). 2022;13(4):83-92
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Efferent therapy in pregnant women with the threat of very early premature birth with premature effusion of amniotic fluid. Two clinical observations

Vetrov V.V., Ivanov D.O., Reznik V.A., Romanova L.A., Melashenko T.V., Kurdynko L.V., Vyugov M.A.


It is known from the literature that premature amniotic fluid expulsion in 22 weeks – 27 weeks 6 days gestation is very dangerous, as it is accompanied by high morbidity and mortality in newborn infants.

Clinical observation. This article presents the results of observing two women with premature amniotic fluid expulsion at 22 and 24 weeks’ gestation, respectively. In the first case, the woman was immediately admitted to the perinatal center; in the second observation, she was admitted after 3.5 weeks of treatment at another institution. In both cases, pregnant women had manifestations of oligo and endotoxemia, a protective inflammatory response in the mother-placental-fetal system (more pronounced in the second observation) against a background of urogenital infection. In the course of complex treatment, the patients underwent detoxification, of efferent therapy in the form of repeated consecutive sessions of plasmapheresis, hemosorption (one operation each), external photomodification of blood with ultraviolet, laser beams with prolongation of pregnancy by 10 and 8 weeks. The deliveries in both cases were operative with live babies with body weight of 1600 g and 1840 g, respectively. In the first case the infant did not need intensive care, was breastfed, in the second observation the newborn received active respiratory support for 9 days, in the dynamics his condition normalized. No septic complications in mothers and fetuses were observed.

The concluding efferent therapy in course of therapy were effected by prolongating of pregnancy with of good the results for mothers and them of fetus.

Pediatrician (St. Petersburg). 2022;13(4):93-100
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Clinical case of successful correction of aortic coarctation with hypoplasia of the distal aortic arch in a premature infant with very low birth weight

Bazylev V.V., Chuprov M.P., Shcheglova K.T., Bofanov D.A., Shcheglov S.E.


Congenital heart disease is considered to be one of the most common diseases among congenital defects. Aortic coarctation belongs to the groupof common congenital heart defects. In the overwhelming majority of cases, it is combined with hypoplasia of the aortic arch and requires urgent surgical intervention. The absence of timely diagnosis of pathology and necessary therapy may lead to congestive heart failure, cardiogenic shock and death. Although the results of treatment of congenital heart defects in newborns have improved significantly in recent years, children with low weight are remainedto be difficult category of patients. Prematurity and low birth weight are risk factors for increased mortality and development of recoarctation in infants who have undergone surgical correction. We represent the case of successful correction of aortic coarctation with hypoplasia of the distal aortic arch in a prematured baby with very low birth weight. The diagnosis was made prenatally. The mother was recommended to be monitored at Рerinatal Сenter, Penza, where at the 35th week, an early delivery was performed because of lack of water and intrauterine fetal development delay. The body weight at birth was 1330 grams. On the same day, the child was admitted to the Federal Center of Cardiovascular Surgery, Penza, where he received the necessary surgical care. The results of dynamic observation of the patient showed the absence of recoarctation and arterial hypertension. Despite the fact that low body weight and prematurity are significant risk factors for complication and an unfavourable outcome, modern medical technologies and accumulated experience have allowed to carry out surgical correction timely and then to do successful postoperative treatment and nursing of the child with coarctation and hypoplasia of the aortic arch.

Pediatrician (St. Petersburg). 2022;13(4):101-106
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A clinical case of the central nervous system mixed infection (staphylococcal and tuberculosis) in a two-year-old boy

Kolesnikov A.N., Polyakhova Y.N.


Inflammatory diseases of the substance and membranes of the brain are characterized by high mortality (10–25% in developed countries and 54–70% in countries with limited resources). One of the features of the infectious pathology of the central nervous system is the polyetiology of pathogens, and in cases of mixed infection, there is always a problem of differential diagnosis and the appointment of adequate etiotropic therapy. Staphylococcal meningoencephalitis occurs in 6.9% of cases of infectious lesions of the central nervous system, while the risk group consists of children with an immunodeficiency condition. The proportion of tuberculous lesions of the central nervous system is extremely small and is only 0.05–0.07% of all children with tuberculosis. A clinical observation of a severe course of mixed infection of the central nervous system in a two-year-old child is presented. The peculiarity of this clinical case is a rare combination of staphylococcal and tuberculous etiology of nervous system damage. The dynamics of the patient’s condition during 32 days in the ICU is described. The emphasis is placed in the areas of intensive care and the role of the influence of adequate etiotropic therapy on the outcome of the disease (in this case, broad-spectrum antibiotics in combination with anti-tuberculosis drugs) is noted. Despite the medical care provided, the outcome of the disease in the child is the formation of subdural bilateral empyema of the frontal region, ventriculitis and occlusive triventricular hydrocephalus, which entails a high risk of further disability. The presented clinical case describing the course and outcome of a rare combination of pathogens of meningoencephalitis is an example of the need for extended differential diagnosis outside the standard search both at the outpatient and inpatient stages of patient management.

Pediatrician (St. Petersburg). 2022;13(4):107-113
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Clinical psychology

Interrelationship of psychological distress, basic beliefs and perceptions of family relationships in informal caregivers of children and adults with epilepsy

Shishkova A.M., Bocharov V.V., Tverdokhlebova A.M., Chernaya Y.S., Vuks A.J., Mikhailov V.A., Sivakova N.A.


BACKGROUND: Relatives caring for an epilepsy patient play a significant role in the care system and maintaining the well-being of the chronically ill and often suffer from significant stress.

AIM: The aim of the study was to reveal the relationship of psychological distress, basic beliefs and perceptions of family relationships in relatives taking care of children and adults with epilepsy.

MATERIALS AND METHODS: The study involved 62 relatives caring for patients with epilepsy, 44 relatives of children (mean [±SD] age, 34,64 ± 6,73 years) and 18 relatives of adults (mean [±SD] age, 48,72 ± 10,99 years). The Symptom Checklist-90-Revised (SCL-90-R), the World Assumption Scale and the Family Environment Scale was used as an assessment tools. Also semi-structured interview for assessing socio-demographic and clinical characteristics was applied.

RESULTS: The results of the study revealed significant similarities of the studied groups both in the explication of the psychopathological symptoms and in perception of their own personality, the surrounding world and intra-family interaction. Informal caregivers of such patients demonstrates significant variability and severity of psychopathological symptoms. And their perception of themselves and the surrounding world is characterized by the “façade” tendencies that act as psychological protection that prevents the catastrophizing of the subjective assessment of the situation associated with the chronic disease of a loved one.

CONCLUSIONS: The study demonstrated the need to develop specialized psychotherapeutic interventions aimed at reducing the level of psychological distress in informal caregivers of patients with epilepsy. During the development and carrying out of such interventions, it is important to take into account the subjective assessment of caregiver’s available life situation, as well as his/her personal values and attitudes that largely determine the severity of psychopathological symptoms.

Pediatrician (St. Petersburg). 2022;13(4):115-127
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